Unique variants in gene APC

Information The variants shown are described using the NM_000038.5 transcript reference sequence.

321 entries on 4 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-18-4_-18-3insT r.spl? p.? g.112090566_112090567insT Copied from the Exome Variant Server APC_000001 1/12514 1/8252 0/4262
1 c.-16C>T r.(=) p.(=) g.112090572C>T Copied from the Exome Variant Server APC_000002 1/13004 1/8600 0/4404
1 c.14C>T r.(?) p.(Ser5Leu) g.112090601C>T Copied from the Exome Variant Server APC_000003 1/13004 1/8600 0/4404
1 c.53T>A r.(?) p.(Met18Lys) g.112090640T>A Copied from the Exome Variant Server APC_000004 1/13004 1/8600 0/4404
1 c.67C>G r.(?) p.(Leu23Val) g.112090654C>G Copied from the Exome Variant Server APC_000005 1/13004 1/8600 0/4404
1 c.70C>T r.(?) p.(Arg24*) g.112090657C>T Copied from the Exome Variant Server APC_000006 1/13004 1/8600 0/4404
1 c.120G>A r.(=) p.(=) g.112090707G>A Copied from the Exome Variant Server APC_000007 20/13004 0/8600 20/4404
1 c.135+32A>G r.(=) p.(=) g.112090754A>G Copied from the Exome Variant Server APC_000008 2/13004 2/8600 0/4404
1 c.136-53T>C r.(=) p.(=) g.112101970T>C Copied from the Exome Variant Server APC_000009 321/4548 78/3164 243/1384
1 c.221-29G>C r.(=) p.(=) g.112102857G>C Copied from the Exome Variant Server APC_000010 4/12998 4/8598 0/4400
1 c.221-27A>C r.(=) p.(=) g.112102859A>C Copied from the Exome Variant Server APC_000011 4/12998 4/8598 0/4400
1 c.251G>T r.(?) p.(Gly84Val) g.112102916G>T Copied from the Exome Variant Server APC_000012 1/13004 1/8600 0/4404
1 c.252A>G r.(=) p.(=) g.112102917A>G Copied from the Exome Variant Server APC_000013 1/13004 1/8600 0/4404
1 c.276C>T r.(=) p.(=) g.112102941C>T Copied from the Exome Variant Server APC_000014 1/13004 0/8600 1/4404
1 c.277C>G r.(?) p.(Leu93Val) g.112102942C>G Copied from the Exome Variant Server APC_000015 4/13004 3/8600 1/4404
1 c.284C>T r.(?) p.(Ser95Phe) g.112102949C>T Copied from the Exome Variant Server APC_000017 2/13004 0/8600 2/4404
1 c.288T>C r.(=) p.(=) g.112102953T>C Copied from the Exome Variant Server APC_000019 1/13004 1/8600 0/4404
1 c.295C>T r.(?) p.(Arg99Trp) g.112102960C>T Copied from the Exome Variant Server APC_000021 12/13004 9/8600 3/4404
1 c.346G>T r.(?) p.(Gly116Cys) g.112103011G>T Copied from the Exome Variant Server APC_000023 1/13004 0/8600 1/4404
1 c.347G>A r.(?) p.(Gly116Asp) g.112103012G>A Copied from the Exome Variant Server APC_000025 1/13004 1/8600 0/4404
1 c.388A>G r.(?) p.(Ser130Gly) g.112103053A>G Copied from the Exome Variant Server APC_000027 2/13004 2/8600 0/4404
1 c.422+14A>G r.(=) p.(=) g.112103101A>G Copied from the Exome Variant Server APC_000030 1/13004 0/8600 1/4404
1 c.422+40C>A r.(=) p.(=) g.112103127C>A Copied from the Exome Variant Server APC_000032 1/13002 1/8598 0/4404
1 c.423-23del r.(=) p.(=) g.112111303del Copied from the Exome Variant Server APC_000035 25/12420 16/8194 9/4226
1 c.423-23dup r.(=) p.(=) g.112111303dup Copied from the Exome Variant Server APC_000034 109/12420 87/8194 22/4226
1 c.423-17dup r.(=) p.(=) g.112111309dup Copied from the Exome Variant Server APC_000016 103/12448 86/8208 17/4240
1 c.423-16_423-14del r.(=) p.(=) g.112111310_112111312del Copied from the Exome Variant Server APC_000018 28/12448 17/8208 11/4240
1 c.423-15_423-14del r.(=) p.(=) g.112111311_112111312del Copied from the Exome Variant Server APC_000020 37/12448 16/8208 21/4240
1 c.423-14del r.(=) p.(=) g.112111312del Copied from the Exome Variant Server APC_000024 1343/12448 782/8208 561/4240
1 c.423-14dup r.(=) p.(=) g.112111312dup Copied from the Exome Variant Server APC_000022 448/12448 280/8208 168/4240
1 c.449A>G r.(?) p.(Lys150Arg) g.112111352A>G Copied from the Exome Variant Server APC_000026 1/12984 0/8580 1/4404
1 c.450A>G r.(=) p.(=) g.112111353A>G Copied from the Exome Variant Server APC_000028 4/12986 4/8582 0/4404
1 c.532-48T>C r.(=) p.(=) g.112116439T>C Copied from the Exome Variant Server APC_000029 1/12970 1/8586 0/4384
1 c.532-45C>T r.(=) p.(=) g.112116442C>T Copied from the Exome Variant Server APC_000031 1/12978 1/8590 0/4388
1 c.532-37C>G r.(=) p.(=) g.112116450C>G Copied from the Exome Variant Server APC_000033 1/12992 0/8592 1/4400
1 c.532-32T>C r.(=) p.(=) g.112116455T>C Copied from the Exome Variant Server APC_000036 61/12996 0/8598 61/4398
1 c.532-24C>A r.(=) p.(=) g.112116463C>A Copied from the Exome Variant Server APC_000037 1/12994 0/8596 1/4398
1 c.532-14A>G r.(=) p.(=) g.112116473A>G Copied from the Exome Variant Server APC_000038 1/13002 0/8600 1/4402
1 c.537C>A r.(=) p.(=) g.112116492C>A Copied from the Exome Variant Server APC_000039 1/13004 1/8600 0/4404
1 c.564A>G r.(=) p.(=) g.112116519A>G Copied from the Exome Variant Server APC_000040 1/13004 0/8600 1/4404
1 c.588C>T r.(=) p.(=) g.112116543C>T Copied from the Exome Variant Server APC_000041 1/13004 1/8600 0/4404
1 c.607C>G r.(?) p.(Gln203Glu) g.112116562C>G Copied from the Exome Variant Server APC_000042 4/13004 4/8600 0/4404
1 c.645+32C>T r.(=) p.(=) g.112116632C>T Copied from the Exome Variant Server APC_000043 932/13002 795/8598 137/4404
1 c.645+33G>A r.(=) p.(=) g.112116633G>A Copied from the Exome Variant Server APC_000044 5/13002 2/8598 3/4404
1 c.647G>T r.(?) p.(Arg216Leu) g.112128144G>T Copied from the Exome Variant Server APC_000045 1/13004 1/8600 0/4404
1 c.672C>T r.(=) p.(=) g.112128169C>T Copied from the Exome Variant Server APC_000046 1/13004 0/8600 1/4404
1 c.705A>G r.(=) p.(=) g.112128202A>G Copied from the Exome Variant Server APC_000047 33/13004 32/8600 1/4404
1 c.729+23T>C r.(=) p.(=) g.112128249T>C Copied from the Exome Variant Server APC_000048 55/13004 0/8600 55/4404
1 c.729+31A>G r.(=) p.(=) g.112128257A>G Copied from the Exome Variant Server APC_000049 1/13004 1/8600 0/4404
1 c.730-37A>G r.(=) p.(=) g.112136939A>G Copied from the Exome Variant Server APC_000050 1/13004 0/8600 1/4404
1 c.730-29A>T r.(=) p.(=) g.112136947A>T Copied from the Exome Variant Server APC_000051 152/13004 0/8600 152/4404
1 c.730-22G>C r.(=) p.(=) g.112136954G>C Copied from the Exome Variant Server APC_000052 8/13004 8/8600 0/4404
1 c.777G>T r.(=) p.(=) g.112137023G>T Copied from the Exome Variant Server APC_000053 2/13004 2/8600 0/4404
1 c.791A>G r.(?) p.(Gln264Arg) g.112137037A>G Copied from the Exome Variant Server APC_000054 1/13004 1/8600 0/4404
1 c.835-24A>T r.(=) p.(=) g.112151168A>T Copied from the Exome Variant Server APC_000055 10/13004 9/8600 1/4404
1 c.835-3T>C r.spl? p.? g.112151189T>C Copied from the Exome Variant Server APC_000056 1/13004 1/8600 0/4404
1 c.894C>G r.(?) p.(His298Gln) g.112151251C>G Copied from the Exome Variant Server APC_000057 1/13004 1/8600 0/4404
1 c.933+7G>C r.(=) p.(=) g.112151297G>C Copied from the Exome Variant Server APC_000058 1/13004 0/8600 1/4404
1 c.933+17A>C r.(=) p.(=) g.112151307A>C Copied from the Exome Variant Server APC_000059 1/13004 0/8600 1/4404
1 c.933+24G>C r.(=) p.(=) g.112151314G>C Copied from the Exome Variant Server APC_000060 1/13004 1/8600 0/4404
1 c.933+30A>G r.(=) p.(=) g.112151320A>G Copied from the Exome Variant Server APC_000061 80/13004 74/8600 6/4404
1 c.933+36A>T r.(=) p.(=) g.112151326A>T Copied from the Exome Variant Server APC_000062 2/13004 2/8600 0/4404
1 c.934-19del r.(=) p.(=) g.112154644del Copied from the Exome Variant Server APC_000063 7/12518 0/8254 7/4264
1 c.993G>A r.(=) p.(=) g.112154722G>A Copied from the Exome Variant Server APC_000064 2/13004 0/8600 2/4404
1 c.995G>A r.(?) p.(Arg332Gln) g.112154724G>A Copied from the Exome Variant Server APC_000065 1/13004 1/8600 0/4404
1 c.1112G>A r.(?) p.(Gly371Glu) g.112154841G>A Copied from the Exome Variant Server APC_000066 1/13004 1/8600 0/4404
1 c.1121G>A r.(?) p.(Arg374Gln) g.112154850G>A Copied from the Exome Variant Server APC_000067 1/13004 1/8600 0/4404
1 c.1158A>G r.(=) p.(=) g.112154887A>G Copied from the Exome Variant Server APC_000068 1/13004 1/8600 0/4404
1 c.1193A>G r.(?) p.(Lys398Arg) g.112154922A>G Copied from the Exome Variant Server APC_000069 2/13004 1/8600 1/4404
1 c.1240C>T r.(?) p.(Arg414Cys) g.112154969C>T Copied from the Exome Variant Server APC_000070 5/13004 4/8600 1/4404
1 c.1312+12A>G r.(=) p.(=) g.112155053A>G Copied from the Exome Variant Server APC_000071 2/13004 1/8600 1/4404
1 c.1312+16T>C r.(=) p.(=) g.112155057T>C Copied from the Exome Variant Server APC_000073 1/13004 1/8600 0/4404
1 c.1312+27G>A r.(=) p.(=) g.112155068G>A Copied from the Exome Variant Server APC_000075 105/13004 97/8600 8/4404
1 c.1313-26T>A r.(=) p.(=) g.112157567T>A Copied from the Exome Variant Server APC_000077 8/13000 0/8598 8/4402
1 c.1313-10T>C r.(=) p.(=) g.112157583T>C Copied from the Exome Variant Server APC_000079 1/13002 0/8598 1/4404
1 c.1313-9A>G r.(=) p.(=) g.112157584A>G Copied from the Exome Variant Server APC_000072 1/13002 1/8598 0/4404
1 c.1331A>G r.(?) p.(His444Arg) g.112157611A>G Copied from the Exome Variant Server APC_000074 1/13002 0/8598 1/4404
1 c.1342C>G r.(?) p.(Pro448Ala) g.112157622C>G Copied from the Exome Variant Server APC_000076 1/13002 0/8598 1/4404
1 c.1409-22del r.(=) p.(=) g.112162783del Copied from the Exome Variant Server APC_000078 1/12518 1/8254 0/4264
1 c.1419G>A r.(=) p.(=) g.112162815G>A Copied from the Exome Variant Server APC_000080 2/13004 2/8600 0/4404
1 c.1443G>A r.(=) p.(=) g.112162839G>A Copied from the Exome Variant Server APC_000081 1/13004 0/8600 1/4404
1 c.1458T>C r.(=) p.(=) g.112162854T>C Copied from the Exome Variant Server APC_000082 6010/13004 5076/8600 934/4404
1 c.1463T>C r.(?) p.(Leu488Pro) g.112162859T>C Copied from the Exome Variant Server APC_000083 1/13004 0/8600 1/4404
1 c.1483A>G r.(?) p.(Ile495Val) g.112162879A>G Copied from the Exome Variant Server APC_000084 1/13004 0/8600 1/4404
1 c.1548+16A>G r.(=) p.(=) g.112162960A>G Copied from the Exome Variant Server APC_000085 1/13004 0/8600 1/4404
1 c.1548+17T>C r.(=) p.(=) g.112162961T>C Copied from the Exome Variant Server APC_000086 2/13004 2/8600 0/4404
1 c.1553C>T r.(?) p.(Thr518Met) g.112163630C>T Copied from the Exome Variant Server APC_000087 1/13004 1/8600 0/4404
1 c.1604C>T r.(?) p.(Ser535Phe) g.112163681C>T Copied from the Exome Variant Server APC_000088 8/13004 0/8600 8/4404
1 c.1606G>A r.(?) p.(Glu536Lys) g.112163683G>A Copied from the Exome Variant Server APC_000090 1/13004 0/8600 1/4404
1 c.1626+19C>T r.(=) p.(=) g.112163722C>T Copied from the Exome Variant Server APC_000092 1/13004 1/8600 0/4404
1 c.1626+30T>C r.(=) p.(=) g.112163733T>C Copied from the Exome Variant Server APC_000094 1/13004 0/8600 1/4404
1 c.1627-35A>G r.(=) p.(=) g.112164518A>G Copied from the Exome Variant Server APC_000096 1/12992 1/8598 0/4394
1 c.1631T>C r.(?) p.(Ile544Thr) g.112164557T>C Copied from the Exome Variant Server APC_000098 6/13004 6/8600 0/4404
1 c.1635G>A r.(=) p.(=) g.112164561G>A Copied from the Exome Variant Server APC_000100 7626/13004 5305/8600 2321/4404
1 c.1668T>C r.(=) p.(=) g.112164594T>C Copied from the Exome Variant Server APC_000102 1/13004 1/8600 0/4404
1 c.1695A>G r.(=) p.(=) g.112164621A>G Copied from the Exome Variant Server APC_000104 158/13004 0/8600 158/4404
1 c.1743+24T>C r.(=) p.(=) g.112164693T>C Copied from the Exome Variant Server APC_000106 1/13004 1/8600 0/4404
1 c.1743+25A>G r.(=) p.(=) g.112164694A>G Copied from the Exome Variant Server APC_000108 1/13004 1/8600 0/4404
1 c.1743+27A>G r.(=) p.(=) g.112164696A>G Copied from the Exome Variant Server APC_000110 1/13004 1/8600 0/4404
1 c.1761C>T r.(=) p.(=) g.112170665C>T Copied from the Exome Variant Server APC_000112 1/13004 0/8600 1/4404
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